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Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
American Journal of Human Genetics
|
August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
Epilepsia
|
December 1, 2020
Temporal lobe epilepsy surgery in children and adults: A multicenter study
Carmen Barba, Massimo Cossu, Renzo Guerrini, et al.
Seizure
|
January 29, 2016
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Jan Lotte, Thomas Bast, Peter Borusiak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
GM3 synthase deficiency in non-Amish patients
Solveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
Nature Genetics
|
June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsy
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Epilepsia
|
January 12, 2011
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
Ingmar Blümcke, Maria Thom, Eleonora Aronica, et al.
Epilepsia Open
|
March 20, 2023
A registry for Dravet syndrome: The Italian experience
Simona Balestrini, Viola Doccini, Sabrina Giometto, et al.
The Lancet. Neurology
|
November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Page
of 62
Search research articles
Search
Showing results (491-500 of 611) with videos related to
Sort By:
Page
of 62
Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
American Journal of Human Genetics
|
August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
Epilepsia
|
December 1, 2020
Temporal lobe epilepsy surgery in children and adults: A multicenter study
Carmen Barba, Massimo Cossu, Renzo Guerrini, et al.
Seizure
|
January 29, 2016
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Jan Lotte, Thomas Bast, Peter Borusiak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
GM3 synthase deficiency in non-Amish patients
Solveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
Nature Genetics
|
June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsy
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Epilepsia
|
January 12, 2011
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
Ingmar Blümcke, Maria Thom, Eleonora Aronica, et al.
Epilepsia Open
|
March 20, 2023
A registry for Dravet syndrome: The Italian experience
Simona Balestrini, Viola Doccini, Sabrina Giometto, et al.
The Lancet. Neurology
|
November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Page
of 62